Arthritis, and Optic disc pallor

Diseases related with Arthritis and Optic disc pallor

In the following list you will find some of the most common rare diseases related to Arthritis and Optic disc pallor that can help you solving undiagnosed cases.


Top matches:

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match RAMON SYNDROME


A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

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Other less relevant matches:

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Low match MUCKLE-WELLS SYNDROME; MWS


Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Top 5 symptoms//phenotypes associated to Arthritis and Optic disc pallor

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Optic disc pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Intellectual disability Arthralgia Myalgia Pain Fatigue Generalized hypotonia Optic atrophy Pneumonia Hepatosplenomegaly Elevated erythrocyte sedimentation rate Growth delay Vasculitis Depressivity Amyloidosis Renal insufficiency Immunodeficiency Nystagmus Splenomegaly Visual impairment Frontal bossing Blindness Hepatomegaly Headache Urticaria Hypertelorism Abdominal pain Pallor Edema Increased intracranial pressure Anemia Lymphadenopathy Skin rash Leukocytosis Juvenile rheumatoid arthritis Scoliosis Abnormality of the skeletal system Meningitis

Rare Symptoms - Less than 30% cases


Depressed nasal bridge Recurrent infections Motor delay Cataract Umbilical hernia Macrocephaly Hyperreflexia Ventriculomegaly Short neck Abnormal facial shape Abnormal thrombocyte morphology Abnormality of the dentition Progressive sensorineural hearing impairment Skeletal dysplasia Osteopenia Cognitive impairment Papule Purpura Conjunctivitis Nephrotic syndrome Migraine Proptosis Episodic fever Uveitis Muscular hypotonia Areflexia Papilledema Babinski sign Constipation Recurrent aphthous stomatitis Chills Vomiting Intellectual disability, mild Diarrhea Rheumatoid arthritis Visual loss Nyctalopia Hyperhidrosis Short stature Myopia Failure to thrive Kyphosis Hypertrichosis Cough Abnormality of skin pigmentation Narrow palate Peripheral neuropathy Vertigo Muscle weakness Conductive hearing impairment Hematuria Abnormality of the helix Reduced ejection fraction Decreased nerve conduction velocity Hydrocele testis Recurrent upper respiratory tract infections Dysostosis multiplex Arnold-Chiari type I malformation Spondylolisthesis Drooling Gout Brachydactyly Abnormal cornea morphology Craniofacial hyperostosis Cranial hyperostosis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Vacuolated lymphocytes Sensorimotor neuropathy Progressive visual loss Thoracolumbar kyphosis Progressive muscle weakness Abnormal echocardiogram Synovitis Impaired smooth pursuit Abnormality of the rib cage Low frustration tolerance Aseptic necrosis Pancreatic fibrosis Amblyopia Recurrent bacterial infections Low anterior hairline Spastic gait Hallucinations Limb ataxia Gingival overgrowth Tall stature Prominent supraorbital ridges Bowing of the long bones Progressive neurologic deterioration Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Widely spaced teeth Chronic otitis media Delusions Bronchitis Muscle mounding Patellar dislocation Severe sensorineural hearing impairment Increased urinary hypoxanthine Limb dystonia Parietal cortical atrophy Thickened calvaria Heart murmur Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Spondylolysis Decreased pulmonary function Increased vertebral height Premature loss of primary teeth Short metacarpal Generalized myoclonic seizures Wide nasal bridge Premature birth Pulmonary insufficiency Overgrowth Joint dislocation Cone-shaped epiphysis Chronic pain Reduced bone mineral density Abnormal joint morphology Chondrocalcinosis Arthropathy Hip dysplasia Delayed closure of the anterior fontanelle Short metatarsal Ectopic kidney Inflammatory abnormality of the eye Nausea and vomiting Renal amyloidosis Band keratopathy Cystinuria EEG abnormality Microscopic hematuria Abnormality of the mouth Abnormality of the skin Combined immunodeficiency Coma Nephropathy Stage 5 chronic kidney disease Ichthyosis Thin lower lip vermilion Lacrimal duct stenosis Underdeveloped supraorbital ridges Elevated C-reactive protein level Abnormality of neutrophils Tetraplegia Antineutrophil antibody positivity Elevated serum creatine phosphokinase Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Cerebral cortical atrophy Neonatal hypotonia Absent speech Aggressive behavior Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Rigors Generalized abnormality of skin Increased hepatic glycogen content Hyporeflexia Spinocerebellar tract disease in lower limbs Premature loss of teeth Bone pain Osteomalacia Pseudopapilledema Retrobulbar optic neuritis Rickets Abnormal granulocyte morphology Hypercalcemia Waddling gait Feeding difficulties Craniosynostosis Dysphagia Respiratory failure Brachycephaly Respiratory distress Hypertension Respiratory insufficiency Peripheral demyelination Behavioral abnormality Otitis media Pericarditis Abnormality of the pleura Recurrent pharyngitis Arterial thrombosis Cerebral ischemia Aortic dissection Gangrene Visual field defect Amaurosis fugax Diabetes insipidus Ophthalmoparesis Skin ulcer Diplopia Anorexia Epistaxis Mediastinal lymphadenopathy Abdominal aortic aneurysm Hepatic failure Flexion contracture Retinal dystrophy Nausea Infertility Erythema Postnatal growth retardation Rod-cone dystrophy Neoplasm Impaired mastication Microcephaly Jaw claudication Retinal arteritis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Arteritis Glossitis Gastrointestinal infarctions Sudden cardiac death Paresthesia Sepsis Decreased serum iron Delayed eruption of teeth Retinopathy Hyperkeratosis Diabetes mellitus Photoreceptor layer loss on macular OCT Ring scotoma Epiretinal membrane Pigmentary retinopathy Decreased mean corpuscular volume Elliptocytosis Retinal pigment epithelial atrophy Poikilocytosis Macular edema Anisocytosis Retinal atrophy Full cheeks Decreased body weight Stroke Axenfeld anomaly Joint stiffness Weight loss Alopecia Arrhythmia Ptosis Enlarged labia minora Angiokeratoma Telangiectasia Abnormal anterior chamber morphology Gingival fibromatosis Telangiectasia of the skin Osteolysis Abnormality of dental enamel Generalized hirsutism Abnormality of retinal pigmentation Abdominal distention Limitation of joint mobility Decreased antibody level in blood Mandibular prognathia Respiratory tract infection Mental deterioration Anxiety Coarse facial features Kyphoscoliosis Macrotia Gait ataxia Broad forehead Prominent forehead Recurrent respiratory infections Delayed skeletal maturation Inguinal hernia Hernia Midface retrusion Cerebral atrophy Pectus carinatum Corneal opacity Cerebellar atrophy Highly arched eyebrow Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Macroglossia Neurodegeneration Thick eyebrow Neurological speech impairment Retinal degeneration Confusion Dysmetria Genu valgum Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Malar flattening Myopathy Gastrointestinal hemorrhage Colitis Large forehead Acrocyanosis Posterior subcapsular cataract Poor coordination Peripheral visual field loss Subcapsular cataract Hypermelanotic macule Increased IgA level Intestinal obstruction Apathy Recurrent pneumonia Long eyelashes Eczema Dehydration Aciduria Peritonitis Neuritis Intellectual disability, severe Delayed speech and language development Hydrocephalus Talipes equinovarus Gait disturbance Skeletal muscle atrophy Dysarthria Epicanthus Spasticity Porokeratosis Strabismus Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Spinal cord posterior columns myelin loss



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Blepharophimosis, related diseases and genetic alterations

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